Clinical and Radiological Variability in Episodic Ataxia Type 2: A Case Report and Review of the Literature
Abstract
Episodic ataxia type 2 (EA2) is an autosomal dominant channelopathy caused by CACNA1A mutations, typically presenting with recurrent episodes of ataxia, vertigo, and hemiplegic migraine, often with a normal brain MRI or cerebellar atrophy. This report describes a 47-year-old man with a 22-year history of recurrent severe headaches, limb weakness, truncal ataxia, sensory disturbances, and profound fatigue, triggered by stress or minor trauma. Interictal recovery was complete, but serial MRI revealed extensive T2/FLAIR white matter hyperintensities, initially raising concern for multiple sclerosis or cerebral vasculitis. Lumbar puncture was unremarkable. Genetic testing identified a pathogenic heterozygous CACNA1A variant (c.7411 C > T, p.R2471*), confirming EA2. Symptomatic management with acetazolamide and trigger avoidance improved episode frequency and severity. This case highlights the diagnostic challenges of EA2 when MRI shows atypical white matter lesions and emphasizes the value of genetic testing in atypical presentations. Recognizing these findings can prevent misdiagnosis, guide targeted therapy, and inform family counseling. Pearls: · The variability of CACNA1A- related disorders is broad and continues to expand. The gene-phenotype spectrum includes episodic ataxia type 2 (EA2), familial hemiplegic migraine type 1 (FMH1), sporadic hemiplegic migraine (SHM), spinocerebellar ataxia type 6, epilepsy and developmental epileptic encephalopathy. · Patients with episodic…
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Calcium Ions in the Physiology and Pathology of the Central Nervous System
- AI-powered in silico twins: redefining precision medicine through simulation, personalization, and predictive healthcare
- In silico functional, structural and pathogenicity analysis of missense single nucleotide polymorphisms in human MCM6 gene
- In Silico drug repurposing pipeline using deep learning and structure based approaches in epilepsy
- Targeting serotonin receptors with phytochemicals – an in-silico study
- In silico exploration of anti-prostate cancer compounds from differential expressed genes
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.